POLG Pathogenicity Prediction Server
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8 patient data entries collated from reference Lamantea et al, 2002.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
231R227W4
S1176L1
PEO
-PEO
adult
n/an/an/a
603R309L3
T251I
P587L2
PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.
-ragged red fibers
-cox-negative
-PEO
adult
n/an/an/a
604G848S1
T251I
P587L2
PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.
-ragged red fibers
-cox-negative
-PEO
adult
n/an/an/a
605Frameshift:
G785fs
T251I
P587L2
PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.
-ragged red fibers
-cox-negative
-PEO
adult
n/an/an/a
606Y955C1
PEO.
-PEO
adult
31n/an/a
607Y955C1
PEO.
-PEO
adult
54n/an/a
608R943H1
adPEO.
-PEO
adult
50n/an/a
609G923D1
G923D1
adPEO.
-PEO
adult
32n/an/a

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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